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YCMi007-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: YCMi007-hDCM007-A

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_C1TI
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseFamilial isolated dilated cardiomyopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleTNNT2p.Arg205Trp (c.613C>T)Heterozygous-PubMed=36801602

Publications

Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene.

Kim H.-P., Kim I.-C., Yoo J.-Y., Park S.W., Kang S.-M., Lee S.-H.

Stem Cell Res. 67:103048-103048(2023).

DOIPubMed